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المؤلفMarzano, Angelo Valerio
المؤلفGenovese, Giovanni
المؤلفMoltrasio, Chiara
المؤلفTricarico, Paola Maura
المؤلفGratton, Rossella
المؤلفPiaserico, Stefano
المؤلفGarcovich, Simone
المؤلفBoniotto, Michele
المؤلفBrandão, Lucas
المؤلفMoura, Ronald
المؤلفCrovella, Sergio
تاريخ الإتاحة2022-01-24T11:04:34Z
تاريخ النشر2022-01-14
اسم المنشورDermatology
المعرّفhttp://dx.doi.org/10.1159/000521263
الاقتباسMarzano A, V, Genovese G, Moltrasio C, Tricarico P, M, Gratton R, Piaserico S, Garcovich S, Boniotto M, Brandão L, Moura R, Crovella S: Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation. Dermatology 2022. doi: 10.1159/000521263
الرقم المعياري الدولي للكتاب1018-8665
معرّف المصادر الموحدhttp://hdl.handle.net/10576/25903
الملخصThe genetics of syndromic hidradenitis suppurativa (HS), an immune-mediated condition associated with systemic comorbidities such as inflammatory bowel diseases and arthritis, has not been completely elucidated. To describe clinical features and genetic signature of patients with the main syndromic HS forms, i.e., PASH, PAPASH, and PASH/SAPHO overlapping. Whole-exome sequencing (WES) approach was performed in ten patients with syndromic HS. Three clinical settings have been identified based on presence/absence of gut and joint inflammation. Four PASH patients who had also gut inflammation showed three different variants in NOD2 gene, two variants in OTULIN, and a variant in GJB2, respectively. Three PAPASH and three PASH/SAPHO overlapping patients who had also joint inflammation showed two different variants in NCSTN, one in WDR1 and PSTPIP1, and two variants in NLRC4, one of whom was present in a patient with a mixed phenotype characterized by gut and joint inflammation. Limited number of patients that can be counterbalanced by the rarity of syndromic HS. Syndromic HS can be considered as a polygenic autoinflammatory condition; currently WES is a diagnostic tool allowing more accurate genotype-phenotype correlation.
راعي المشروعThis work was supported by a Biomolecular Analyses for Tailored Medicine in AcneiNversa (BATMAN) project, funded by ERA PerMed.
اللغةen
الناشرKarger Publishers
الموضوعAcne
Arthritis
Autoinflammation
Gut inflammation
Hidradenitis suppurativa
Keratinization
Pyoderma gangrenosum
Whole-exome sequencing
العنوانWhole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation.
النوعArticle
ESSN1421-9832
dc.accessType Full Text


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